Duplication | NM_000187.4(HGD):c.970dup (p.Val324fs) | HGD | Pathogenic/Likely pathogenic | 3 | 120357337 | 120357338 | A | AC | criteria provided, multiple submitters, no conflicts | ClinGen:CA16040887 |
Indel | NM_000187.4(HGD):c.1017_1019delinsTA (p.Met339fs) | HGD | Pathogenic | 3 | 120352163 | 120352165 | CTC | TA | criteria provided, multiple submitters, no conflicts | ClinGen:CA16040886 |
Duplication | NM_000187.4(HGD):c.1064dup (p.Gly356fs) | HGD | Likely pathogenic | 3 | 120352117 | 120352118 | A | AC | criteria provided, single submitter | ClinGen:CA16040885 |
single nucleotide variant | NM_000187.4(HGD):c.1188+1G>T | HGD | Pathogenic/Likely pathogenic | 3 | 120351993 | 120351993 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA2559950 |
single nucleotide variant | NM_000187.4(HGD):c.1201G>C (p.Glu401Gln) | HGD | Pathogenic/Likely pathogenic | 3 | 120347364 | 120347364 | C | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA2559930 |
single nucleotide variant | NM_000187.4(HGD):c.11T>A (p.Leu4Ter) | HGD | Pathogenic/Likely pathogenic | 3 | 120400948 | 120400948 | A | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA277982 |
single nucleotide variant | NM_000187.4(HGD):c.342+1G>T | HGD | Pathogenic/Likely pathogenic | 3 | 120371438 | 120371438 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA277988 |
single nucleotide variant | NM_000187.4(HGD):c.365C>T (p.Ala122Val) | HGD | Pathogenic/Likely pathogenic | 3 | 120369690 | 120369690 | G | A | criteria provided, multiple submitters, no conflicts | UniProtKB:Q93099#VAR_073090,ClinGen:CA277986 |
Deletion | NM_000187.4(HGD):c.652del | HGD | Pathogenic/Likely pathogenic | 3 | 120363288 | 120363288 | GC | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA277987 |
single nucleotide variant | NM_000187.4(HGD):c.674G>A (p.Arg225His) | HGD | Pathogenic/Likely pathogenic | 3 | 120363266 | 120363266 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA277989,UniProtKB:Q93099#VAR_005281 |